MCID: CRN209
MIFTS: 27

Cornelia De Lange Syndrome 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Cornelia De Lange Syndrome 5

MalaCards integrated aliases for Cornelia De Lange Syndrome 5:

Name: Cornelia De Lange Syndrome 5 54 71 29 13 69
Cdls5 71

Characteristics:

OMIM:

54
Miscellaneous:
variable severity
females may be unaffected or mildly affected

Inheritance:
x-linked dominant


HPO:

32
cornelia de lange syndrome 5:
Onset and clinical course variable expressivity
Inheritance x-linked inheritance x-linked dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 5

OMIM : 54
Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (300040) (CDLS2; 300590) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. (300882)

MalaCards based summary : Cornelia De Lange Syndrome 5, is also known as cdls5, and has symptoms including long eyelashes, hirsutism and ventriculomegaly. An important gene associated with Cornelia De Lange Syndrome 5 is HDAC8 (Histone Deacetylase 8). Affiliated tissues include testes and eye.

UniProtKB/Swiss-Prot : 71 Cornelia de Lange syndrome 5: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 5

Symptoms & Phenotypes for Cornelia De Lange Syndrome 5

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
cleft palate
downturned corners of the mouth

Head And Neck- Eyes:
long eyelashes
myopia
ptosis
arched eyebrows
hypertelorism
more
Abdomen- Gastroin testinal:
feeding problems
gastroesophageal reflux

Head And Neck- Face:
micrognathia
retrognathia
long philtrum

Head And Neck- Neck:
short neck

Neurologic- Central Nervous System:
intellectual disability
mental retardation (in males)
learning disabilities (in females)

Head And Neck- Head:
brachycephaly
small head circumference

Growth- Other:
postnatal growth retardation

Neurologic- Behavioral Psychiatric Manifestations:
happy demeanor
behavioral disorders

Growth- Height:
short stature (family h)

Genitourinary- External Genitalia Male:
small penis (family h)

Endocrine Features:
hypogonadism (family h)

Muscle Soft Tissue:
hypotonia

Head And Neck- Nose:
anteverted nostrils
depressed nasal bridge
broad nasal tip
long columella

Skin Nails & Hair- Hair:
hirsutism
low anterior hairline

Skeletal- Hands:
small hands

Skin Nails & Hair- Skin:
cutis marmorata
nevus flammus

Skeletal- Feet:
small feet
toe syndactyly

Head And Neck- Ears:
hearing loss (in some patients)

Head And Neck- Teeth:
widely spaced teeth

Skeletal- Skull:
delayed closure of the fontanels

Growth- Weight:
truncal obesity (family h)

Genitourinary- Internal Genitalia Male:
small testes (family h)
cryptorchidism (family h)


Clinical features from OMIM:

300882

Human phenotypes related to Cornelia De Lange Syndrome 5:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 long eyelashes 32 very rare (1%) HP:0000527
2 hirsutism 32 very rare (1%) HP:0001007
3 ventriculomegaly 32 very rare (1%) HP:0002119
4 myopia 32 HP:0000545
5 seizures 32 HP:0001250
6 ptosis 32 very rare (1%) HP:0000508
7 micrognathia 32 very rare (1%) HP:0000347
8 depressed nasal bridge 32 HP:0005280
9 hypertelorism 32 HP:0000316
10 cleft palate 32 HP:0000175
11 retrognathia 32 HP:0000278
12 global developmental delay 32 very rare (1%) HP:0001263
13 gastroesophageal reflux 32 HP:0002020
14 broad nasal tip 32 HP:0000455
15 short neck 32 HP:0000470
16 telecanthus 32 HP:0000506
17 low anterior hairline 32 very rare (1%) HP:0000294
18 cutis marmorata 32 very rare (1%) HP:0000965
19 intellectual disability 32 HP:0001249
20 thin vermilion border 32 very rare (1%) HP:0000233
21 long philtrum 32 very rare (1%) HP:0000343
22 synophrys 32 very rare (1%) HP:0000664
23 toe syndactyly 32 HP:0001770
24 brachycephaly 32 very rare (1%) HP:0000248
25 high palate 32 very rare (1%) HP:0000218
26 postnatal growth retardation 32 HP:0008897
27 widely spaced teeth 32 HP:0000687
28 happy demeanor 32 HP:0040082
29 limited elbow extension 32 very rare (1%) HP:0001377
30 feeding difficulties in infancy 32 very rare (1%) HP:0008872
31 downturned corners of mouth 32 very rare (1%) HP:0002714
32 prominent nasal bridge 32 very rare (1%) HP:0000426
33 hearing impairment 32 occasional (7.5%) HP:0000365
34 small hand 32 very rare (1%) HP:0200055
35 short foot 32 very rare (1%) HP:0001773
36 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
37 highly arched eyebrow 32 very rare (1%) HP:0002553
38 proximal placement of thumb 32 very rare (1%) HP:0009623

Drugs & Therapeutics for Cornelia De Lange Syndrome 5

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cornelia De Lange Syndrome 5

Genetic Tests for Cornelia De Lange Syndrome 5

Genetic tests related to Cornelia De Lange Syndrome 5:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 5 29

Anatomical Context for Cornelia De Lange Syndrome 5

MalaCards organs/tissues related to Cornelia De Lange Syndrome 5:

39
Testes, Eye

Publications for Cornelia De Lange Syndrome 5

Variations for Cornelia De Lange Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 5:

71
id Symbol AA change Variation ID SNP ID
1 HDAC8 p.His180Arg VAR_069140 rs397515416
2 HDAC8 p.Thr311Met VAR_069141 rs397515417
3 HDAC8 p.Gly320Arg VAR_069142 rs398122909
4 HDAC8 p.His334Arg VAR_069143 rs397515418

ClinVar genetic disease variations for Cornelia De Lange Syndrome 5:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 HDAC8 NM_018486.2(HDAC8): c.164+5G> A single nucleotide variant Pathogenic rs398122888 GRCh37 Chromosome X, 71791902: 71791902
2 HDAC8 NM_018486.2(HDAC8): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs397515415 GRCh37 Chromosome X, 71715066: 71715066
3 HDAC8 NM_018486.2(HDAC8): c.539A> G (p.His180Arg) single nucleotide variant Pathogenic rs397515416 GRCh37 Chromosome X, 71715017: 71715017
4 HDAC8 NM_018486.2(HDAC8): c.932C> T (p.Thr311Met) single nucleotide variant Pathogenic rs397515417 GRCh37 Chromosome X, 71681927: 71681927
5 HDAC8 NM_018486.2(HDAC8): c.1001A> G (p.His334Arg) single nucleotide variant Pathogenic rs397515418 GRCh37 Chromosome X, 71681858: 71681858
6 HDAC8 NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met) single nucleotide variant Pathogenic rs587779380 GRCh37 Chromosome X, 71787820: 71787820
7 HDAC8 NM_018486.2(HDAC8): c.131delT (p.Leu44Terfs) deletion Pathogenic rs587783663 GRCh38 Chromosome X, 72572090: 72572090
8 HDAC8 NC_000023.10: g.71681853_72434328del752476 deletion Pathogenic GRCh37 Chromosome X, 71681853: 72434328
9 HDAC8 NM_018486.2(HDAC8): c.770C> A (p.Pro257His) single nucleotide variant Likely pathogenic rs797045613 GRCh37 Chromosome X, 71684549: 71684549
10 HDAC8 NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys) single nucleotide variant Likely pathogenic rs797045612 GRCh37 Chromosome X, 71710851: 71710851
11 HDAC8 NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs797045611 GRCh37 Chromosome X, 71788670: 71788670
12 HDAC8 NM_018486.2(HDAC8): c.134_137delTTGA (p.Ile45Lysfs) deletion Pathogenic rs797045610 GRCh37 Chromosome X, 71791934: 71791937
13 HDAC8 NM_018486.2(HDAC8): c.1006-2A> G single nucleotide variant Likely pathogenic rs863224877 GRCh38 Chromosome X, 72351840: 72351840
14 HDAC8 NM_018486.2(HDAC8): c.737+1G> A single nucleotide variant Likely pathogenic rs869312660 GRCh37 Chromosome X, 71708782: 71708782
15 HDAC8 NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer) indel Likely pathogenic rs1057516037 GRCh38 Chromosome X, 72464626: 72464630
16 HDAC8 NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly) single nucleotide variant Likely pathogenic rs1057518727 GRCh37 Chromosome X, 71715029: 71715029
17 HDAC8 NM_018486.2(HDAC8): c.1112-2A> G single nucleotide variant Likely pathogenic rs1131690790 GRCh37 Chromosome X, 71549928: 71549928
18 HDAC8 NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 71571613: 71571613

Expression for Cornelia De Lange Syndrome 5

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 5.

Pathways for Cornelia De Lange Syndrome 5

GO Terms for Cornelia De Lange Syndrome 5

Sources for Cornelia De Lange Syndrome 5

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16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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